642 results on '"van Spronsen, Francjan J"'
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2. Tyrosine Metabolism
3. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
4. Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ
5. Dietary treatment in Dutch children with phenylketonuria: An inventory of associated social restrictions and eating problems
6. Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents
7. High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease
8. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
9. High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s Disease
10. Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative
11. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone
12. Preventive use of nitisinone in alkaptonuria
13. Phenylketonuria
14. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1
15. Hippocampal microglia modifications in C57Bl/6 Pahenu2 and BTBR Pahenu2 phenylketonuria (PKU) mice depend on the genetic background, irrespective of disturbed sleep patterns
16. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
17. Response to the Letter to the Editor Regarding “Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria”
18. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
19. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles
20. Dietary Considerations in Tyrosinemia Type I
21. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
22. Liver Cancer in Tyrosinemia Type 1
23. Phenylalanine effects on brain function in adult phenylketonuria
24. Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria
25. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
26. Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
27. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease
28. Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice
29. Key European guidelines for the diagnosis and management of patients with phenylketonuria
30. Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
31. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
32. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
33. Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day
34. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
35. Newborn screening for primary carnitine deficiency:Who will benefit? - A retrospective cohort study
36. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
37. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
38. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
39. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
40. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
41. The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy
42. Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective
43. Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
44. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
45. Can untreated PKU patients escape from intellectual disability? A systematic review
46. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients
47. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
48. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results
49. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
50. Caring for Ukrainian refugee children with acute and chronic diseases
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